Mutagenetix > Incidental Mutation

Incidental Mutation 'R7086:Arfgef2'

549881

Institutional Source

Beutler Lab

Gene Symbol

Arfgef2

Ensembl Gene

ENSMUSG00000074582

Gene Name

ADP ribosylation factor guanine nucleotide exchange factor 2

Synonyms

BIG2, E230011G24Rik

MMRRC Submission

045180-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.414) question?

Stock #

R7086 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

166647508-166739972 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 166718536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 1442 (C1442S)

Ref Sequence

ENSEMBL: ENSMUSP00000096677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099078]

AlphaFold

A2A5R2

Predicted Effect

probably damaging
Transcript: ENSMUST00000099078
AA Change: C1442S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096677
Gene: ENSMUSG00000074582
AA Change: C1442S

Domain	Start	End	E-Value	Type
Pfam:DCB	7	200	1.6e-40	PFAM
Pfam:Sec7_N	377	536	3.7e-53	PFAM
Blast:Sec7	549	598	8e-18	BLAST
low complexity region	621	633	N/A	INTRINSIC
Sec7	647	834	1.55e-97	SMART
Blast:Sec7	853	888	2e-11	BLAST
Blast:Sec7	902	941	4e-15	BLAST
low complexity region	1044	1055	N/A	INTRINSIC
Pfam:DUF1981	1174	1257	6e-38	PFAM
low complexity region	1719	1729	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (60/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit exencephaly, midline gut closure defects, periventricular and subependymal heterotopia, and impaired neuronal migration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	A	G	3: 98,068,635 (GRCm39)	H28R	probably damaging	Het
Adgre4	T	C	17: 56,127,649 (GRCm39)	I563T	probably benign	Het
Ankub1	A	T	3: 57,597,746 (GRCm39)	C75S	probably damaging	Het
Antxrl	G	A	14: 33,787,873 (GRCm39)	V299I	probably benign	Het
Atp13a3	T	C	16: 30,169,881 (GRCm39)	D399G	possibly damaging	Het
Cacna2d1	T	A	5: 16,554,414 (GRCm39)	Y666N	probably damaging	Het
Cenpo	C	T	12: 4,265,307 (GRCm39)	E238K	probably benign	Het
Cfap91	A	T	16: 38,127,219 (GRCm39)	F512L	possibly damaging	Het
Chrng	C	A	1: 87,138,735 (GRCm39)	R455S	probably benign	Het
Cimap1a	A	G	7: 140,429,402 (GRCm39)	H151R	probably benign	Het
Cluh	T	A	11: 74,558,166 (GRCm39)	H1155Q	possibly damaging	Het
Col16a1	G	A	4: 129,946,773 (GRCm39)		probably null	Het
Cpne5	G	A	17: 29,378,051 (GRCm39)	P576L	unknown	Het
Crocc	C	A	4: 140,774,368 (GRCm39)	V144L	possibly damaging	Het
Cubn	A	G	2: 13,324,669 (GRCm39)	V2781A	probably damaging	Het
Cyp8b1	A	G	9: 121,744,355 (GRCm39)	F326L	probably benign	Het
Dclk1	G	A	3: 55,395,333 (GRCm39)		probably null	Het
Dennd2b	A	G	7: 109,124,781 (GRCm39)	I1083T	probably damaging	Het
Dnah7c	A	G	1: 46,789,285 (GRCm39)	R3303G	probably benign	Het
Dnhd1	G	T	7: 105,357,739 (GRCm39)	R3191S	probably benign	Het
Fgfbp3	T	G	19: 36,896,103 (GRCm39)	S172R	possibly damaging	Het
Gpr158	G	A	2: 21,831,386 (GRCm39)	V829I	probably benign	Het
Gtse1	A	G	15: 85,759,750 (GRCm39)	D647G	probably damaging	Het
H2-Q7	T	A	17: 35,658,461 (GRCm39)	V33E	probably damaging	Het
Hydin	A	G	8: 111,326,877 (GRCm39)	T4739A	possibly damaging	Het
Kcnip1	G	T	11: 33,584,629 (GRCm39)	P175T	probably damaging	Het
Klhl10	T	C	11: 100,347,768 (GRCm39)	V608A	probably benign	Het
Klhl2	A	G	8: 65,275,664 (GRCm39)	Y80H	probably damaging	Het
Lnx2	A	T	5: 146,956,988 (GRCm39)		probably null	Het
Lst1	G	A	17: 35,404,262 (GRCm39)	H59Y	probably damaging	Het
Mphosph8	G	C	14: 56,905,980 (GRCm39)	V58L	possibly damaging	Het
Mpnd	C	A	17: 56,316,457 (GRCm39)	S45R	possibly damaging	Het
Myh8	A	G	11: 67,183,453 (GRCm39)		probably null	Het
Or12j4	A	G	7: 140,046,341 (GRCm39)	T76A	possibly damaging	Het
Or4c52	A	G	2: 89,845,594 (GRCm39)	I107V	probably benign	Het
Phox2a	A	G	7: 101,467,718 (GRCm39)	Y5C	probably damaging	Het
Pkdrej	A	G	15: 85,704,317 (GRCm39)	S540P	probably damaging	Het
Plcb4	A	G	2: 135,849,767 (GRCm39)	M1133V	probably benign	Het
Plxnc1	T	C	10: 94,667,297 (GRCm39)	M1126V	probably benign	Het
Ppm1l	A	G	3: 69,225,186 (GRCm39)	Y96C	probably damaging	Het
Prpsap1	T	C	11: 116,368,109 (GRCm39)	T234A	probably benign	Het
R3hcc1l	T	C	19: 42,570,409 (GRCm39)	V668A	probably damaging	Het
Rapgef2	A	G	3: 78,993,353 (GRCm39)	S712P	probably benign	Het
Rcc2	T	C	4: 140,435,280 (GRCm39)	C100R	probably benign	Het
Recql4	C	A	15: 76,589,753 (GRCm39)	G764V	unknown	Het
Rlbp1	A	G	7: 79,029,813 (GRCm39)	I140T	possibly damaging	Het
Samsn1	T	C	16: 75,667,794 (GRCm39)	T261A	probably benign	Het
Sgtb	T	C	13: 104,254,924 (GRCm39)	S65P	possibly damaging	Het
Spag9	T	C	11: 93,988,690 (GRCm39)	V920A	probably benign	Het
Spata31	T	A	13: 65,070,043 (GRCm39)	S730R	probably benign	Het
Spta1	C	T	1: 174,027,050 (GRCm39)	A841V	probably damaging	Het
Tnfaip1	T	C	11: 78,416,265 (GRCm39)	S273G	probably benign	Het
Vezf1	T	C	11: 87,969,364 (GRCm39)	V371A	probably benign	Het
Vmn1r67	G	A	7: 10,181,044 (GRCm39)	V103I	possibly damaging	Het
Vmn2r87	G	T	10: 130,333,178 (GRCm39)	T24K	probably benign	Het
Wdr43	G	A	17: 71,923,434 (GRCm39)	G60D	probably benign	Het
Xkr4	G	A	1: 3,287,185 (GRCm39)	T335I	probably damaging	Het
Zdhhc23	A	T	16: 43,791,873 (GRCm39)	I300N	probably damaging	Het
Zfp729b	T	C	13: 67,741,056 (GRCm39)	K403R	probably damaging	Het

Other mutations in Arfgef2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Arfgef2	APN	2	166,727,773 (GRCm39)	missense	probably damaging	1.00
IGL01323:Arfgef2	APN	2	166,713,415 (GRCm39)	missense	probably damaging	1.00
IGL01415:Arfgef2	APN	2	166,709,275 (GRCm39)	missense	probably damaging	0.98
IGL01638:Arfgef2	APN	2	166,715,865 (GRCm39)	missense	probably damaging	0.97
IGL02618:Arfgef2	APN	2	166,695,233 (GRCm39)	missense	probably damaging	1.00
IGL02899:Arfgef2	APN	2	166,710,971 (GRCm39)	splice site	probably benign
IGL03012:Arfgef2	APN	2	166,710,808 (GRCm39)	splice site	probably benign
IGL03063:Arfgef2	APN	2	166,701,702 (GRCm39)	splice site	probably benign
migrainous	UTSW	2	166,676,383 (GRCm39)	frame shift	probably null
Scotomata	UTSW	2	166,693,199 (GRCm39)	critical splice donor site	probably null
shimmering	UTSW	2	166,668,848 (GRCm39)	missense	probably benign
R0102:Arfgef2	UTSW	2	166,687,385 (GRCm39)	missense	probably benign	0.00
R0102:Arfgef2	UTSW	2	166,687,385 (GRCm39)	missense	probably benign	0.00
R0116:Arfgef2	UTSW	2	166,715,603 (GRCm39)	missense	probably damaging	1.00
R0128:Arfgef2	UTSW	2	166,677,639 (GRCm39)	missense	probably damaging	1.00
R0130:Arfgef2	UTSW	2	166,677,639 (GRCm39)	missense	probably damaging	1.00
R0208:Arfgef2	UTSW	2	166,709,342 (GRCm39)	missense	probably damaging	1.00
R0379:Arfgef2	UTSW	2	166,702,320 (GRCm39)	critical splice donor site	probably null
R0945:Arfgef2	UTSW	2	166,668,889 (GRCm39)	unclassified	probably benign
R1226:Arfgef2	UTSW	2	166,669,560 (GRCm39)	missense	probably damaging	1.00
R1252:Arfgef2	UTSW	2	166,701,877 (GRCm39)	missense	probably damaging	1.00
R1695:Arfgef2	UTSW	2	166,706,632 (GRCm39)	missense	probably damaging	0.98
R1696:Arfgef2	UTSW	2	166,703,558 (GRCm39)	missense	probably damaging	1.00
R1742:Arfgef2	UTSW	2	166,708,900 (GRCm39)	missense	probably damaging	1.00
R1935:Arfgef2	UTSW	2	166,705,523 (GRCm39)	missense	probably benign	0.28
R1936:Arfgef2	UTSW	2	166,705,523 (GRCm39)	missense	probably benign	0.28
R1939:Arfgef2	UTSW	2	166,715,548 (GRCm39)	missense	probably damaging	1.00
R2276:Arfgef2	UTSW	2	166,707,679 (GRCm39)	missense	probably benign	0.00
R2279:Arfgef2	UTSW	2	166,707,679 (GRCm39)	missense	probably benign	0.00
R2349:Arfgef2	UTSW	2	166,693,948 (GRCm39)	missense	probably damaging	1.00
R2359:Arfgef2	UTSW	2	166,702,539 (GRCm39)	missense	probably damaging	1.00
R2414:Arfgef2	UTSW	2	166,687,424 (GRCm39)	missense	probably benign	0.00
R2519:Arfgef2	UTSW	2	166,723,164 (GRCm39)	missense	probably benign	0.03
R2938:Arfgef2	UTSW	2	166,736,653 (GRCm39)	missense	probably damaging	1.00
R3696:Arfgef2	UTSW	2	166,695,220 (GRCm39)	nonsense	probably null
R4022:Arfgef2	UTSW	2	166,715,865 (GRCm39)	missense	probably benign	0.01
R4227:Arfgef2	UTSW	2	166,709,244 (GRCm39)	missense	probably damaging	1.00
R4293:Arfgef2	UTSW	2	166,732,211 (GRCm39)	missense	probably benign
R4455:Arfgef2	UTSW	2	166,736,635 (GRCm39)	missense	probably benign	0.43
R4499:Arfgef2	UTSW	2	166,727,734 (GRCm39)	missense	probably damaging	0.99
R4570:Arfgef2	UTSW	2	166,698,458 (GRCm39)	missense	probably damaging	0.99
R4888:Arfgef2	UTSW	2	166,677,533 (GRCm39)	missense	probably damaging	1.00
R4893:Arfgef2	UTSW	2	166,708,876 (GRCm39)	missense	probably benign
R5032:Arfgef2	UTSW	2	166,720,464 (GRCm39)	missense	probably benign
R5191:Arfgef2	UTSW	2	166,718,431 (GRCm39)	missense	probably damaging	1.00
R5200:Arfgef2	UTSW	2	166,702,604 (GRCm39)	missense	probably benign	0.00
R5318:Arfgef2	UTSW	2	166,715,891 (GRCm39)	missense	probably damaging	1.00
R5378:Arfgef2	UTSW	2	166,715,548 (GRCm39)	missense	probably damaging	1.00
R5537:Arfgef2	UTSW	2	166,698,513 (GRCm39)	splice site	probably null
R5866:Arfgef2	UTSW	2	166,678,177 (GRCm39)	missense	possibly damaging	0.88
R5878:Arfgef2	UTSW	2	166,712,137 (GRCm39)	missense	probably benign	0.41
R5972:Arfgef2	UTSW	2	166,733,756 (GRCm39)	missense	probably damaging	1.00
R6147:Arfgef2	UTSW	2	166,713,415 (GRCm39)	missense	probably damaging	1.00
R6293:Arfgef2	UTSW	2	166,715,508 (GRCm39)	missense	possibly damaging	0.92
R6323:Arfgef2	UTSW	2	166,676,404 (GRCm39)	missense	probably damaging	1.00
R6338:Arfgef2	UTSW	2	166,687,490 (GRCm39)	missense	probably damaging	1.00
R6538:Arfgef2	UTSW	2	166,735,541 (GRCm39)	splice site	probably null
R6726:Arfgef2	UTSW	2	166,735,540 (GRCm39)	critical splice donor site	probably null
R7047:Arfgef2	UTSW	2	166,693,865 (GRCm39)	splice site	probably null
R7108:Arfgef2	UTSW	2	166,715,528 (GRCm39)	missense	possibly damaging	0.80
R7155:Arfgef2	UTSW	2	166,707,733 (GRCm39)	missense	probably benign	0.19
R7159:Arfgef2	UTSW	2	166,668,848 (GRCm39)	missense	probably benign
R7482:Arfgef2	UTSW	2	166,693,199 (GRCm39)	critical splice donor site	probably null
R7598:Arfgef2	UTSW	2	166,698,444 (GRCm39)	missense	probably benign
R7869:Arfgef2	UTSW	2	166,715,623 (GRCm39)	missense	probably damaging	1.00
R8003:Arfgef2	UTSW	2	166,695,208 (GRCm39)	missense	probably damaging	1.00
R8092:Arfgef2	UTSW	2	166,701,754 (GRCm39)	missense	probably damaging	1.00
R8093:Arfgef2	UTSW	2	166,736,577 (GRCm39)	missense	probably benign	0.02
R8110:Arfgef2	UTSW	2	166,720,464 (GRCm39)	missense	probably benign	0.01
R8130:Arfgef2	UTSW	2	166,678,170 (GRCm39)	missense	possibly damaging	0.81
R8153:Arfgef2	UTSW	2	166,676,383 (GRCm39)	frame shift	probably null
R8156:Arfgef2	UTSW	2	166,676,383 (GRCm39)	frame shift	probably null
R8411:Arfgef2	UTSW	2	166,715,903 (GRCm39)	missense	probably benign	0.15
R8418:Arfgef2	UTSW	2	166,698,468 (GRCm39)	missense	probably benign	0.19
R8738:Arfgef2	UTSW	2	166,708,867 (GRCm39)	missense	probably benign	0.00
R8826:Arfgef2	UTSW	2	166,677,386 (GRCm39)	intron	probably benign
R8967:Arfgef2	UTSW	2	166,677,662 (GRCm39)	missense	probably damaging	1.00
R8971:Arfgef2	UTSW	2	166,701,221 (GRCm39)	missense	probably damaging	1.00
R8972:Arfgef2	UTSW	2	166,709,253 (GRCm39)	missense	possibly damaging	0.67
R9010:Arfgef2	UTSW	2	166,701,284 (GRCm39)	missense	probably damaging	1.00
R9077:Arfgef2	UTSW	2	166,706,721 (GRCm39)	missense	probably damaging	1.00
R9249:Arfgef2	UTSW	2	166,733,690 (GRCm39)	missense	probably damaging	1.00
R9306:Arfgef2	UTSW	2	166,723,188 (GRCm39)	missense	probably benign	0.02
R9394:Arfgef2	UTSW	2	166,676,469 (GRCm39)	missense	probably benign	0.13
R9776:Arfgef2	UTSW	2	166,713,447 (GRCm39)	missense	probably damaging	1.00
X0040:Arfgef2	UTSW	2	166,701,803 (GRCm39)	missense	probably damaging	1.00
X0063:Arfgef2	UTSW	2	166,733,761 (GRCm39)	missense	probably benign	0.32
Z1088:Arfgef2	UTSW	2	166,735,515 (GRCm39)	missense	possibly damaging	0.78
Z1176:Arfgef2	UTSW	2	166,736,632 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGCAGCCATCTTACCCTAGAG -3'
(R):5'- GTACACACGGATGGACAGACAC -3'

Sequencing Primer
(F):5'- AGCCATCTTACCCTAGAGATGTTGG -3'
(R):5'- AAGTGCATCTCACCCTTTAAAAC -3'

Posted On

2019-05-15